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An overview of Dent disease [PDF]
Childhood Kidney Diseases, 2023 Dent disease is a rare inherited kidney tubulopathy caused by mutations in either the CLCN5 (Dent disease 1) or OCRL1 (Dent disease 2) genes, and which is often underdiagnosed in practice.
Eun Mi Yang, Seong Hwan Chang
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Late ophthalmology findings in a X-linked juvenile retinoschisis patient [PDF]
Revista Brasileira de Oftalmologia, 2021 X-linked juvenile retinoschisis (XLRS) is a vitreoretinal degeneration caused by mutations in the RS1 gene, generally characterized by bilateral maculopathy and peripheral retinoschisis leading to progressive visual loss during the first 2 decades of ...
Paulo Rodolfo Tagliari Barbisan +1 more
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Orphanet Journal of Rare Diseases, 2023 Background X-linked hypophosphatemia (XLH) is a rare, hereditary, progressive, renal phosphate-wasting disorder characterized by a pathological increase in FGF23 concentration and activity. Due to its rarity, diagnosis may be delayed, which can adversely
G. Ariceta +19 more
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Nature Reviews Endocrinology, 2022 X-linked hypophosphataemia (XLH) is the most frequent cause of hypophosphataemia-associated rickets of genetic origin and is associated with high levels of the phosphaturic hormone fibroblast growth factor 23 (FGF23).
A. Trombetti +26 more
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Dermatoscopic aspects of the Microphthalmia with Linear Skin Defects (MLS) Syndrome [PDF]
Anais Brasileiros de Dermatologia, 2014 The association of microphthalmia and linear skin defects was named microphthalmia with linear skin defects syndrome (MLS) or MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea), an X-chromosomal disorder manifesting mainly in females.
Hiram Larangeira de Almeida Jr. +5 more
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Journal of Neuromuscular Diseases, 2021 X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital myopathy characterized by profound skeletal muscle weakness, respiratory distress, and motor dysfunction.
C. Molera +13 more
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Anais Brasileiros de Dermatologia, 2014 Incontinentia pigmenti is a rare genodermatosis in which the skin involvement occurs in all patients. Additionally, other ectodermal tissues may be affected, such as the central nervous system, eyes, hair, nails and teeth.
Claudia Schermann Poziomczyk +12 more
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Clinical and genetic characteristics of adult cerebral adrenoleukodystrophy
Shanghai Jiaotong Daxue xuebao. Yixue ban, 2023 Objective·To summarize and analyze the clinical and genetic characteristics of adult cerebral adrenoleukodystrophy(ACALD ).Methods·The data of eight patients with ACALD who attended the Shanghai Sixth People′s Hospital, Shanghai Jiao Tong University ...
LIU Taotao +7 more
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Incontinentia pigmenti or Bloch-Sulzberger syndrome: a rare X-linked genodermatosis [PDF]
Anais Brasileiros de Dermatologia, 2014 Incontinentia pigmenti is a rare X-linked genodermatosis that affects mainly female neonates. The first manifestation occurs in the early neonatal period and progresses through four stages: vesicular, verruciform, hyperpigmented and hypopigmented ...
Gabriela Franco Marques +2 more
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Molecular Genetics & Genomic Medicine, 2021 Family genetic testing of patients newly diagnosed with a rare genetic disease can improve early diagnosis of family members, allowing patients to receive disease‐specific therapies when available.
D. Germain +18 more
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